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2016

Journal Article

Genetic risk score mendelian randomization shows that obesity measured as body mass index, but not waist:hip ratio, is causal for endometrial cancer

Painter, Jodie N., O'Mara, Tracy A., Marquart, Louise, Webb, Penelope M., Attia, John, Medland, Sarah E., Cheng, Timothy, Dennis, Joe, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Ahmed, Shahana, Healey, Catherine S., Shah, Mitul, Gorman, Maggie, Martin, Lynn, Hodgson, Shirley V., Beckmann, Matthias W., Ekici, Arif B., Fasching, Peter A., Hein, Alexander, Rübner, Matthias, Czene, Kamila, Darabi, Hatef, Hall, Per, Li, Jingmei, Dörk, Thilo, Dürst, Matthias, Hillemanns, Peter ... Spurdle, Amanda B. (2016). Genetic risk score mendelian randomization shows that obesity measured as body mass index, but not waist:hip ratio, is causal for endometrial cancer. Cancer Epidemiology Biomarkers and Prevention, 25 (11), 1503-1510. doi: 10.1158/1055-9965.EPI-16-0147

Genetic risk score mendelian randomization shows that obesity measured as body mass index, but not waist:hip ratio, is causal for endometrial cancer

2016

Journal Article

A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding

Painter, Jodie N., Kaufmann, Susanne, O'Mara, Tracy A., Hillman, Kristine M., Sivakumaran, Haran, Darabi, Hatef, Cheng, Timothy H.T., Pearson, John, Kazakoff, Stephen, Waddell, Nicola, Hoivik, Erling A., Goode, Ellen L., Scott, Rodney J., Tomlinson, Ian, Dunning, Alison M., Easton, Douglas F., French, Juliet D., Salvesen, Helga B., Pollock, Pamela M., Thompson, Deborah J., Spurdle, Amanda B. and Edwards, Stacey L. (2016). A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding. American Journal of Human Genetics, 98 (6), 1159-1169. doi: 10.1016/j.ajhg.2016.04.012

A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding

2016

Journal Article

Five endometrial cancer risk loci identified through genome-wide association analysis

Cheng, Timothy H. T., Thompson, Deborah J., O'Mara, Tracy A., Painter, Jodie N., Glubb, Dylan M., Flach, Susanne, Lewis, Annabelle, French, Juliet D., Freeman-Mills, Luke, Church, David, Gorman, Maggie, Martin, Lynn, Hodgson, Shirley, Webb, Penelope M., Attia, John, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Henders, Anjali K., Martin, Nicholas G., Montgomery, Grant W., Nyholt, Dale R., Ahmed, Shahana, Healey, Catherine S., Shah, Mitul, Dennis, Joe, Fasching, Peter A., Beckmann, Matthias W., Hein, Alexander ... Spurdle, Amanda B. (2016). Five endometrial cancer risk loci identified through genome-wide association analysis. Nature Genetics, 48 (6), 667-674. doi: 10.1038/ng.3562

Five endometrial cancer risk loci identified through genome-wide association analysis

2016

Journal Article

Point mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

Li, Jun, Woods, Susan L., Healey, Sue, Beesley, Jonathan, Chen, Xiaoqing, Lee, Jason S., Sivakumaran, Haran, Wayte, Nicci, Nones, Katia, Waterfall, Joshua J., Pearson, John, Patch, Anne-Marie, Senz, Janine, Ferreira, Manuel A., Kaurah, Pardeep, Mackenzie, Robertson, Heravi-Moussavi, Alireza, Hansford, Samantha, Lannagan, Tamsin R. M., Spurdle, Amanda B., Simpson, Peter T., da Silva, Leonard, Lakhani, Sunil R., Clouston, Andrew D., Bettington, Mark, Grimpen, Florian, Busuttil, Rita A., Di Costanzo, Natasha, Boussioutas, Alex ... Chenevix-Trench, Georgia (2016). Point mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. American Journal of Human Genetics, 98 (5), 830-842. doi: 10.1016/j.ajhg.2016.03.001

Point mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

2016

Journal Article

CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer

Thompson, Deborah J., O'Mara, Tracy A., Glubb, Dylan M., Painter, Jodie N., Cheng, Timothy, Folkerd, Elizabeth, Doody, Deborah, Dennis, Joe, Webb, Penelope M., Gorman, Maggie, Martin, Lynn, Hodgson, Shirley, Michailidou, Kyriaki, Tyrer, Jonathan P., Maranian, Mel J., Hall, Per, Czene, Kamila, Darabi, Hatef, Li, Jingmei, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Ekici, Arif B., Doerk, Thilo, Hillemanns, Peter, Duerst, Matthias, Runnebaum, Ingo, Zhao, Hui, Depreeuw, Jeroen ... Spurdle, Amanda B. (2016). CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer. Endocrine-Related Cancer, 23 (2), 77-91. doi: 10.1530/ERC-15-0386

CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer

2016

Journal Article

RAD51B in familial breast cancer

Pelttari, Liisa M., Khan, Sofia, Vuorela, Mikko, Kiiski, Johanna I., Vilske, Sara, Nevanlinna, Viivi, Ranta, Salla, Schleutker, Johanna, Winqvist, Robert, Kallioniemi, Anne, Dörk, Thilo, Bogdanova, Natalia V., Figueroa, Jonine, Pharoah, Paul D. P., Schmidt, Marjanka K., Dunning, Alison M., García-Closas, Montserrat, Bolla, Manjeet K., Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Hopper, John L., Southey, Melissa C., Rosenberg, Efraim H., Fasching, Peter A., Beckmann, Matthias W., Peto, Julian, Dos-Santos-silva, Isabel, Sawyer, Elinor J. ... Zeps, N. (2016). RAD51B in familial breast cancer. PLoS One, 11 (5) e0153788, e0153788. doi: 10.1371/journal.pone.0153788

RAD51B in familial breast cancer

2015

Journal Article

Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer

O'Mara, Tracy A., Glubb, Dylan M., Painter, Jodie N., Cheng, Timothy, Dennis, Joe, Attia, John, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Ashton, Katie, Proietto, Tony, Otton, Geoffrey, Shah, Mitul, Ahmed, Shahana, Healey, Catherine S., Gorman, Maggie, Martin, Lynn, Hodgson, Shirley, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Ekici, Arif B., Hall, Per, Czene, Kamila, Darabi, Hatef, Li, Jingmei, Duerst, Matthias, Runnebaum, Ingo, Hillemanns, Peter ... Spurdle, Amanda B. (2015). Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer. Endocrine-Related Cancer, 22 (5), 851-861. doi: 10.1530/ERC-15-0319

Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer

2015

Journal Article

Evidence of a Causal Association between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis

Nead, Kevin T., Sharp, Stephen J., Thompson, Deborah J., Painter, Jodie N., Savage, David B., Semple, Robert K., Barker, Adam, Perry, John R. B., Attia, John, Dunning, Alison M., Easton, Douglas F., Holliday, Elizabeth, Lotta, Luca A., O'Mara, Tracy, McEvoy, Mark, Pharoah, Paul D. P., Scott, Rodney J., Spurdle, Amanda B., Langenberg, Claudia, Wareham, Nicholas J. and Scott, Robert A. (2015). Evidence of a Causal Association between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis. Journal of the National Cancer Institute, 107 (9) djv178, 1-7. doi: 10.1093/jnci/djv178

Evidence of a Causal Association between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis

2015

Journal Article

Prediction of individual genetic risk to prostate cancer using a polygenic score

Szulkin, Robert, Whitington, Thomas, Eklund, Martin, Aly, Markus, Eeles, Rosalind A., Easton, Douglas, Kote-Jarai, ZSofia, Al Olama, Ali Amin, Benlloch, Sara, Muir, Kenneth, Giles, Graham G., Southey, Melissa C., Fitzgerald, Liesel M., Henderson, Brian E., Schumacher, Fredrick, Haiman, Christopher A., Schleutker, Johanna, Wahlfors, Tiina, Tammela, Teuvo L. J., Nordestgaard, Borge G., Key, Tim J., Travis, Ruth C., Neal, David E., Donovan, Jenny L., Hamdy, Freddie C., Pharoah, Paul, Pashayan, Nora, Khaw, Kay-Tee, Stanford, Janet L. ... Wiklund, Fredrik (2015). Prediction of individual genetic risk to prostate cancer using a polygenic score. Prostate, 75 (13), 1467-1474. doi: 10.1002/pros.23037

Prediction of individual genetic risk to prostate cancer using a polygenic score

2015

Journal Article

Association between single-nucleotide polymorphisms in growth factor genes and quality of life in men with prostate cancer and the general population

Alexander, Kimberley E., Chambers, Suzanne, Spurdle, Amanda B., Batra, Jyotsna, Lose, Felicity, O'Mara, Tracy A., Gardiner, Robert A., Aitken, Joanne F., Clements, Judith A., Kedda, Mary-Anne and Janda, Monika (2015). Association between single-nucleotide polymorphisms in growth factor genes and quality of life in men with prostate cancer and the general population. Quality of Life Research, 24 (9), 2183-2193. doi: 10.1007/s11136-015-0950-6

Association between single-nucleotide polymorphisms in growth factor genes and quality of life in men with prostate cancer and the general population

2015

Journal Article

Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis

Sobral-Leite, Marcelo, Wesseling, Jelle, Smit, Vincent T. H. B. M., Nevanlinna, Heli, van Miltenburg, Martine H., Sanders, Joyce, Hofland, Ingrid, Blows, Fiona M., Coulson, Penny, Patrycja, Gazinska, Schellens, Jan H. M., Fagerholm, Rainer, Heikkila, Paivi, Aittomaki, Kristiina, Blomqvist, Carl, Provenzano, Elena, Ali, Hamid Raza, Figueroa, Jonine, Sherman, Mark, Lissowska, Jolanta, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Phillips, Kelly-Anne, Couch, Fergus J., Olson, Janet E., Vachon, Celine, Visscher, Daniel ... Spurdle, Amanda (2015). Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis. BMC Medicine, 13 (1) 156, 1-11. doi: 10.1186/s12916-015-0392-6

Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis

2015

Journal Article

Risk analysis of prostate cancer in practical, a multinational consortium, using 25 known prostate cancer susceptibility loci

Al Olama, Ali Amin, Benlloch, Sara, Antoniou, Antonis C., Giles, Graham G., Severi, Gianluca, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Muir, Kenneth, Schleutker, Johanna, Henderson, Brian E., Haiman, Christopher A., Schumacher, Fredrick R., Pashayan, Nora, Pharoah, Paul D. P., Ostrander, Elaine A., Stanford, Janet L., Batra, Jyotsna, Clements, Judith A., Chambers, Suzanne K., Weischer, Maren, Nordestgaard, Borge G., Ingles, Sue A., Sorensen, Karina D., Orntoft, Torben F., Park, Jong Y., Cybulski, Cezary, Maier, Christiane, Doerk, Thilo ... Easton, Douglas F. (2015). Risk analysis of prostate cancer in practical, a multinational consortium, using 25 known prostate cancer susceptibility loci. Cancer Epidemiology Biomarkers and Prevention, 24 (7), 1121-1129. doi: 10.1158/1055-9965.EPI-14-0317

Risk analysis of prostate cancer in practical, a multinational consortium, using 25 known prostate cancer susceptibility loci

2015

Journal Article

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Blein, Sophie, Bardel, Claire, Danjean, Vincent, McGuffog, Lesley, Healey, Sue, Barrowdale, Daniel, Lee, Andrew, Dennis, Joe, Kuchenbaecker, Karoline B., Soucy, Penny, Terry, Mary Beth, Chung, Wendy K., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Neuhausen, Susan L., Ding, Yuan Chun, Gerdes, Anne-Marie, Ejlertsen, Bent, Nielsen, Finn C., Hansen, Thomas V. O., Osorio, Ana, Benitez, Javier, Andres Conejero, Raquel, Segota, Ena ... Cox, David G. (2015). An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. Breast Cancer Research, 17 (1) 61. doi: 10.1186/s13058-015-0567-2

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

2015

Journal Article

Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

Blanco I., Kuchenbaecker K., Cuadras D., Wang X., Barrowdale D., De Garibay G.R., Librado P., Sanchez-Gracia A., Rozas J., Bonifaci N., McGuffog L., Pankratz V.S., Islam A., Mateo F., Berenguer A., Petit A., Catala I., Brunet J., Feliubadalo L., Tornero E., Benitez J., Osorio A., Teresa R., Teresa C., Nevanlinna H., Aittomaki K., Arun B.K., Toland A.E., Karlan B.Y. ... Pujana M.A. (2015). Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. PLoS ONE, 10 (4), 1-18. doi: 10.1371/journal.pone.0120020

Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

2015

Journal Article

A genetic variant of MDM4 influences regulation by multiple microRNAs in prostate cancer

Stegeman, Shane, Moya, Leire, Selth, Luke A., Spurdle, Amanda B., Clements, Judith A. and Batra, Jyotsna (2015). A genetic variant of MDM4 influences regulation by multiple microRNAs in prostate cancer. Endocrine-Related Cancer, 22 (2), 265-276. doi: 10.1530/ERC-15-0013

A genetic variant of MDM4 influences regulation by multiple microRNAs in prostate cancer

2015

Journal Article

Incidence, risk factors, and estimates of a woman's risk for developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancer

Beesley, Vanessa L., Rowlands, Ingrid J., Hayes, Sandi C., Janda, Monika, O'Rourke, Peter, Marquart, Louise, Quinn, Michael A., Spurdle, Amanda B., Obermair, Andreas, Brand, Alison, Oehler, Martin K., Leung, Yee, McQuire, Lesley and Webb, Penelope M. (2015). Incidence, risk factors, and estimates of a woman's risk for developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancer. Obstetrical and Gynecological Survey, 70 (3), 176-177. doi: 10.1097/OGX.0000000000000167

Incidence, risk factors, and estimates of a woman's risk for developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancer

2015

Journal Article

Intrauterine devices and endometrial cancer risk: A pooled analysis of the Epidemiology of Endometrial Cancer Consortium

Felix, Ashley S., Gaudet, Mia M., La Vecchia, Carlo, Nagle, Christina M., Shu, Xiao Ou, Weiderpass, Elisabete, Adami, Hans Olov, Beresford, Shirley, Bernstein, Leslie, Chen, Chu, Cook, Linda S., De Vivo, Immaculata, Doherty, Jennifer A., Friedenreich, Christine M., Gapstur, Susan M., Hill, Dierdre, Horn-Ross, Pamela L., Lacey, James V., Levi, Fabio, Liang, Xiaolin, Lu, Lingeng, Magliocco, Anthony, McCann, Susan E., Negri, Eva, Olson, Sara H., Palmer, Julie R., Patel, Alpa V., Petruzella, Stacey, Prescott, Jennifer ... Brinton, Louise A. (2015). Intrauterine devices and endometrial cancer risk: A pooled analysis of the Epidemiology of Endometrial Cancer Consortium. International Journal of Cancer, 136 (5), E410-E422. doi: 10.1002/ijc.29229

Intrauterine devices and endometrial cancer risk: A pooled analysis of the Epidemiology of Endometrial Cancer Consortium

2015

Journal Article

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

Painter J.N., O'Mara T.A., Batra J., Cheng T., Lose F.A., Dennis J., Michailidou K., Tyrer J.P., Ahmed S., Ferguson K., Healey C.S., Kaufmann S., Hillman K.M., Walpole C., Moya L., Pollock P., Jones A., Howarth K., Martin L., Gorman M., Hodgson S., De Polanco M.M.E., Sans M., Carracedo A., Castellvi-Bel S., Rojas-Martinez A., Santos E., Teixeira M.R., Carvajal-Carmona L. ... Spurdle A.B. (2015). Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. Human Molecular Genetics, 24 (5), 1478-1492. doi: 10.1093/hmg/ddu552

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

2015

Journal Article

Infertility and incident endometrial cancer risk: a pooled analysis from the epidemiology of endometrial cancer consortium (E2C2)

Yang, H. P., Cook, L. S., Weiderpass, E., Adami, H. -O., Anderson, K. E., Cai, H., Cerhan, J. R., Clendenen, T. V., Felix, A. S., Friedenreich, C. M., Garcia-Closas, M., Goodman, M. T., Liang, X., Lissowska, J., Lu, L., Magliocco, A. M., McCann, S. E., Moysich, K. B., Olson, S. H., Petruzella, S., Pike, M. C., Polidoro, S., Ricceri, F., Risch, H. A., Sacerdote, C., Setiawan, V. W., Shu, X. O., Spurdle, A. B., Trabert, B. ... Brinton, L. A. (2015). Infertility and incident endometrial cancer risk: a pooled analysis from the epidemiology of endometrial cancer consortium (E2C2). British Journal of Cancer, 112 (5), 925-933. doi: 10.1038/bjc.2015.24

Infertility and incident endometrial cancer risk: a pooled analysis from the epidemiology of endometrial cancer consortium (E2C2)

2015

Journal Article

BRCA1 Circos: A visualisation resource for functional analysis of missense variants

Jhuraney, Ankita, Velkova, Aneliya, Johnson, Randall C., Kessing, Bailey, Carvalho, Renato S., Whiley, Phillip, Spurdle, Amanda B., Vreeswijk, Maaike P. G., Caputo, Sandrine M., Millot, Gael A., Vega, Ana, Coquelle, Nicolas, Galli, Alvaro, Eccles, Diana, Blok, Marinus J., Pal, Tuya, van der Luijt, Rob B., Pena, Marta Santamarina, Neuhausen, Susan L., Donenberg, Talia, Machackova, Eva, Thomas, Simon, Vallee, Maxime, Couch, Fergus J., Tavtigian, Sean V., Glover, J. N. Mark, Carvalho, Marcelo A., Brody, Lawrence C., Sharan, Shyam K. and Monteiro, Alvaro N. (2015). BRCA1 Circos: A visualisation resource for functional analysis of missense variants. Journal of Medical Genetics, 52 (4), 224-230. doi: 10.1136/jmedgenet-2014-102766

BRCA1 Circos: A visualisation resource for functional analysis of missense variants